Mutational analysis on gastric, duodenal, bone, and mediastinal lymph node metastases and blood from a case of primary lung adenocarcinoma.
Mutational analysis on gastric, duodenal, bone, and mediastinal lymph node metastases and blood from a case of primary lung adenocarcinoma.
复制标题
一例原发性肺腺癌胃、十二指肠、骨、纵隔淋巴结转移及血液的突变分析
DOI：
10.2147/ott.s167602
复制
发表时间：
2018
影响因子：
4
通讯作者：
Ji M
中科院分区：
文献类型：
--
作者：
Yang X;Chen R;Wu C;Zhao W;Ji M
肺腺癌的高死亡率与快速转移有关。本研究报告了一例罕见的原发性肺腺癌合并胃、十二指肠、骨和纵隔淋巴结转移。使用基于下一代测序的大基因面板来检测不同转移部位和血液中的基因突变。结果表明，不同转移灶的基因突变谱基本相似。纵隔淋巴结中突变丰度最高。仅在纵隔淋巴结、骨和胃转移灶中检测到独特的突变位点。尽管存在部分异质性，但目前没有适用的靶向药物可供采用。此外，肿瘤突变负荷（TMB）显示血液、胃、骨和纵隔淋巴结转移均为TMB-高，而十二指肠转移为TMB-低。本研究首次报道了一例罕见的新诊断肺腺癌伴胃肠道转移，并对所有转移灶进行了突变分析。需要具有类似案例的大样本量才能获得更深入的见解。
Rapid metastasis contributes significantly to the high mortality rates in lung adenocarcinoma. The present study reports a rare case of primary lung adenocarcinoma with concomitant gastric, duodenal, bone, and mediastinal lymph node metastases. A large gene panel based on the next-generation sequencing was used to detect gene mutations in different metastatic sites and blood. The results showed that the gene mutation spectrums among different metastatic foci were roughly similar. The mutation abundance was highest in mediastinal lymph nodes. Unique mutation sites were detected only in mediastinal lymph nodes, bone, and gastric metastatic foci. Despite partial heterogeneity, there are currently no applicable targeted drugs to adopt. In addition, tumor mutation burden (TMB) showed that blood, gastric, bone, and mediastinal lymph node metastases were all TMB-High, while the duodenal metastasis was TMB-Low. This study is the first to report a rare case of newly diagnosed lung adenocarcinoma with concomitant gastrointestinal metastases and to perform mutation analyses on all metastatic foci. Large sample sizes with similar cases are required to gain deeper insights.